Department of Neurology and Neuro-rehabilitation, Division of neuroscience, Institute of Experimental Neurology (INSPE), San Raffaele Scientific Institute, Milan, Italy; Experimental neurophysiology, Division of neuroscience, Institute of Experimental Neurology (INSPE), San Raffaele Scientific Institute, Milan, Italy.
Immunogenetics Laboratory, HLA & Chimerism, Depatment of Immunohematology & Blood Transfusion, San Raffaele Scientific Institute, Milan, Italy.
Mult Scler Relat Disord. 2018 Oct;25:73-76. doi: 10.1016/j.msard.2018.07.017. Epub 2018 Jul 24.
The coexistence of multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD) in the same family is a rare event. We report a familial case originating from Sardinia of two siblings: one with NMOSD and one with MS. Human leukocyte antigen (HLA) typing showed that the two affected siblings were HLA-identical, sharing risk-increasing alleles, while a younger unaffected sister was haploidentical to her siblings but she also carried protective alleles. Our findings confirm the role of HLA in raising the risk to develop CNS inflammatory diseases and provide further knowledge on the relationship between NMOSD and MS.
多发性硬化症 (MS) 和视神经脊髓炎谱系障碍 (NMOSD) 在同一家庭中共存是一种罕见的现象。我们报告了一个源自撒丁岛的家族病例，涉及两兄弟：一个患有 NMOSD，另一个患有 MS。人类白细胞抗原 (HLA) 分型显示，这两个受影响的兄弟 HLA 相同，携带风险增加的等位基因，而一个年轻的未受影响的妹妹与她的兄弟姐妹单倍体相同，但也携带保护性等位基因。我们的研究结果证实了 HLA 在增加中枢神经系统炎症性疾病风险方面的作用，并进一步了解了 NMOSD 和 MS 之间的关系。
